A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17180807



Internal ID21628316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166062363..166062363hg38UCSC Ensembl
chr6:166475851..166475851hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5684015
Supporting Variants
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17180807
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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